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Article

Maternal versus paternal inheritance of a 132 bp 11p15.5 microdeletion affecting KCNQ1OT1 and associated phenotypes.

Journal of medical genetics - 1 Feb 2023

Stoltze Ulrik Kristoffer, Hansen Thomas Van Overeem, Brok Jesper Sune, Grønskov Karen, Tumer Zeynep, Ahlborn Lise Barlebo, Schmiegelow Kjeld, Wadt Karin A W

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Identifiers

PMID: 35772845
DOI: 10.1136/jmedgenet-2021-108335
PMCID: PMC9887393

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Maternal versus paternal inheritance of a 132 bp 11p15.5 microdeletion affecting KCNQ1OT1 and associated phenotypes.PMID 35772845Read ↗

Paternal 132 bp deletion affecting KCNQ1OT1 in 11p15.5 is associated with growth retardation but does not affect imprinting.Semantic proximity Read ↗

The 5' end of the KCNQ1OT1 gene is hypomethylated in the Beckwith-Wiedemann syndrome.Semantic proximity Read ↗

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A complex maternal rearrangement results in a pure 10.8 Mb duplication of the 5q13.1-q14.1 region in an affected son.Semantic proximity Read ↗

Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significanceSemantic proximity Read ↗

The KCNQ1OT1 promoter, a key regulator of genomic imprinting in human chromosome 11p15.5.Semantic proximity Read ↗

Genomic organization and mutational analysis of KVLQT1, a gene responsible for familial long QT syndromeSemantic proximity Read ↗

Novel mutations in PTPN11 gene in two girls with Noonan syndrome phenotype.Semantic proximity Read ↗

Mutation in KCNQ1 that has both recessive and dominant characteristics.Semantic proximity Read ↗

Sequence-based structural features between Kvlqt1 and Tapa1 on mouse chromosome 7F4/F5 corresponding to the Beckwith-Wiedemann syndrome region on human 11p15.5: long-stretches of unusually well conserved intronic sequences of kvlqt1 between mouse and human.Semantic proximity Read ↗

Paternal allelic mutation at the Kcnq1 locus reduces pancreatic β-cell mass by epigenetic modification of Cdkn1c.Semantic proximity Read ↗

Genetic variants within the second intron of the KCNQ1 gene affect CTCF binding and confer a risk of Beckwith-Wiedemann syndrome upon maternal transmission.Semantic proximity Read ↗

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